High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome

The first mutation in CNGA2 in two brothers with anosmia.

Clinical genetics·2014

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Human genetics·2013

Chemotaxis in tetrahymena.

European journal of protistology·2012

1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development.

Gene·2012

Genetic studies in congenital anterior midline cervical cleft.

American journal of medical genetics. Part A·2012

Genetic heterogeneity in Pakistani microcephaly families.

Clinical genetics·2012

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Clinical genetics·2026

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Clinical genetics·2026

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

Clinical genetics·2026

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

Clinical genetics·2026

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

T2T-CHM13 reference genome reduces mapping bias and enhances alignment accuracy at disease-associated variants.

iScience·2026

Genome-wide exploration of coat color-associated loci in Hokkaido Native Horses, with a novel locus implicated in the roan phenotype.

Journal of equine science·2026

Diagnostic limitations of routine low-coverage CNV-seq in detecting mosaic paternal uniparental disomy in Beckwith-Wiedemann syndrome: a case report.

Frontiers in medicine·2026

Cataract GWAS meta-analysis and multi-omics Mendelian randomisation inform disease mechanisms and candidate target prioritisation.

EBioMedicine·2026

Cross-Ethnic Replication of Intersectin-1 as a Parkinson's Disease Susceptibility Gene in a Large Chinese Cohort.

Movement disorders : official journal of the Movement Disorder Society·2026

Chromosomal abnormalities in isolated persistent left superior vena cava: A systematic review and meta-analysis.

Turkish journal of obstetrics and gynecology·2026

Related Experiment Videos

High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome

Related Concept Videos

The first mutation in CNGA2 in two brothers with anosmia.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Chemotaxis in tetrahymena.

1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development.

Genetic studies in congenital anterior midline cervical cleft.

Genetic heterogeneity in Pakistani microcephaly families.

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

T2T-CHM13 reference genome reduces mapping bias and enhances alignment accuracy at disease-associated variants.

Genome-wide exploration of coat color-associated loci in Hokkaido Native Horses, with a novel locus implicated in the roan phenotype.

Diagnostic limitations of routine low-coverage CNV-seq in detecting mosaic paternal uniparental disomy in Beckwith-Wiedemann syndrome: a case report.

Cataract GWAS meta-analysis and multi-omics Mendelian randomisation inform disease mechanisms and candidate target prioritisation.

Cross-Ethnic Replication of Intersectin-1 as a Parkinson's Disease Susceptibility Gene in a Large Chinese Cohort.

Chromosomal abnormalities in isolated persistent left superior vena cava: A systematic review and meta-analysis.

Related Experiment Videos

High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome

Related Concept Videos

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